Alkaptonuria is a novel human secondary amyloidogenic disease

Alkaptonuria (AKU) is an ultra-rare disease developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces a HGA-melanin ochronotic pigment, of unknown composition. There is no therapy for AKU. Our aim was to verify if AKU implied a secondar...

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Detalles Bibliográficos
Autores principales: Millucci, Lia, Spreafico, Adriano, Tinti, Laura, Braconi, Daniela, Ghezzi, Lorenzo, Paccagnini, Eugenio, Bernardini, Giulia, Amato, Loredana, Laschi, Marcella, Selvi, Enrico, Galeazzi, Mauro, Mannoni, Alessandro, Benucci, Maurizio, Lupetti, Pietro, Chellini, Federico, Orlandini, Maurizio, Santucci, Annalisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Pub. Co 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787765/
https://www.ncbi.nlm.nih.gov/pubmed/22850426
http://dx.doi.org/10.1016/j.bbadis.2012.07.011

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